Celebrating another milestone as my son with Pompe disease turns 5

A proud mother describes her elation about this special day

Keara Engle avatar

by Keara Engle |

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Last week, we celebrated my son Cayden’s fifth birthday. Birthdays are a big milestone for all children, but this year felt extra special for us. I never knew if I would see this day, and I’m so thankful that I did.

Cayden was diagnosed with infantile-onset Pompe disease the day he turned 1 month old. The news was hard to swallow, to say the least. I was a teen mom and had just found out that my newborn had a rare genetic disease. Although I knew it wasn’t exactly my fault, I couldn’t help but feel a bit guilty about it. Initially, I had no idea what this disease was, but from the fear I sensed in the doctor’s voice, it didn’t sound good.

I remember running to Google to search for Pompe disease and reading some scary and outdated information. Some websites stated that my baby wouldn’t make it to the age of 2, which is news that no parent wants to hear. Thankfully, the doctor who diagnosed Cayden reassured me that the information online was outdated.

She told me about enzyme replacement therapy to slow down the disease’s progression. While it sounded scary at first, five years later, these infusions have become routine in our lives.

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A five-year-old boy sits in an assistive device in front of a table with a white birthday cake with blue frosting balloons. He glances up and to his left at the camera.

Cayden celebrates his fifth birthday with a special cake. (Photo by Keara Engle)

Additional scares

In addition to the initial fear of losing my son due to the outdated information, I’ve been terrified of that possibility a few more times over the years. In 2021, Cayden got really sick twice. The first time, he had pneumonia and needed to be intubated, leading to a two-month hospitalization. The second time, he contracted respiratory syncytial virus and was hospitalized for over a month. That time, it was so bad that it caused him to stop breathing and go into respiratory arrest at home.

Both of these hospitalizations were scary. There were days when the doctors expressed to me that they’d tried everything and the only thing they could do was keep him comfortable while he was hooked up to machines that helped him breathe. It’s an image I’m not sure I’ll ever get out of my head. Thankfully, Cayden recovered both times and returned to his normal self.

All of these situations have left me wondering if my son will make it through another year. I’m so proud to say that despite all of the hardships, he has made it to his fifth birthday. Watching your child grow is a bittersweet feeling. While I miss the days when he was a little baby and didn’t have the sassy attitude that he has now, I’ll keep on hoping we’ll make it through another year — day by day.

Note: Pompe Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Pompe Disease News or its parent company, BioNews, and are intended to spark discussion about issues pertaining to Pompe disease.


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